[Ion Torrent PGM sequencing for detection of Y chromosome microdeletion in 87 cases of azoospermia]

To explore the feasibility of Ion Torrent PGM sequencing in detection of Y chromosome microdeletion.

We enrolled 87 infertility patients with non-obstructive azoospermia (NOA) in this study and analyzed their routine semen parameters, reproductive hormone levels and chromosomal karyotypes. We detected Y chromosome microdeletion in the patients by Ion Torrent PGM sequencing and multiplex PCR, and compared the detection rates between the two methods.

Ion Torrent PGM sequencing achieved a significantly higher detection rate of Y chromosome microdeletion than multiplex PCR (49.4% vs 12.6%, P < 0.05). The cases of AZF deletion detected by Ion Torrent PGM sequencing included all those detected by multiplex PCR, and the deletion sites were completely consistent. In addition, 14 male infertility-related gene mutations were detected in 24 of the 87 patients, with a total positive rate of 27.59%.

Ion Torrent PGM sequencing can significantly improve the detection rate of Y chromosome microdeletion in infertility patients with NOA, detect a variety of male infertility-related gene mutations, and therefore contribute to the diagnosis of azoospermia.